Lv752
5000 积分 2021-08-09 加入
Phenotypic spectrum of ALPK3-related cardiomyopathy
10天前
已完结
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department
15天前
已完结
AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification
23天前
已完结
Identification of Eight Point Mutations in Protein S Deficiency Type I – Analysis of 15 Pedigrees
1个月前
已完结
Mutations profile in Chinese patients with hypertrophic cardiomyopathy
1个月前
已完结
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
1个月前
已完结
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
2个月前
已完结
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy
2个月前
已完结
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported
2个月前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
2个月前
已完结
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